[Copy number variation and parental consanguinity elevated in newborns of high altitude with major congenital anomalies in Perú].

Introduction: Congenital abnormalities could be caused by copy number variation or homozygous variants inherited of parental consanguineous. Purpose.

Objetive: To show copy number variants and regions of homozygosity in neonates with malformative syndrome or one congenital anomaly major associated to facial dysmorphia or hypotonia.